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Number of items: 3.

Willemsen, M A; Verbeek, M M; Kamsteeg, E J; de Rijk-van Andel, J F; Aeby, A; Blau, N; Burlina, A; Donati, M A; Geurtz, B; Grattan-Smith, P J; Haeussler, M; Hoffmann, G F; Jung, H; de Klerk, J B; van der Knaap, M S; Kok, F; Leuzzi, V; de Lonlay, P; Megarbane, A; Monaghan, H; Renier, W O; Rondot, P; Ryan, M M; Seeger, J; Smeitink, J A; Steenbergen-Spanjers, G C; Wassmer, E; Weschke, B; Wijburg, F A; Wilcken, B; Zafeiriou, D I; Wevers, R A (2010). Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain: A Journal of Neurology, 133(6):1810-1822.

Verbeek, M M; Willemsen, M A; Wevers, R A; Lagerwerf, A J; Abeling, N G; Blau, N; Thöny, B; Vargiami, E; Zafeiriou, D I (2008). Two Greek siblings with sepiapterin reductase deficiency. Molecular Genetics and Metabolism, 94(4):403-409.

Budde, B S; Namavar, Y; Barth, P G; Poll-The, B T; Nürnberg, G; Becker, C; van Ruissen, F; Weterman, M A J; Fluiter, K; te Beek, E T; Aronica, E; van der Knaap, M S; Höhne, W; Toliat, M R; Crow, Y J; Steinling, M; Voit, T; Roelens, F; Brussel, W; Brockmann, K; Kyllerman, M; Boltshauser, E; Hammersen, G; Willemsen, M A; Basel-Vanagaite, L; Krägeloh-Mann, I; de Vries, L S; Sztriha, L; Muntoni, F; Ferrie, C D; Battini, R; Hennekam, R C M; Grillo, E; Beemer, F A; Stoets, L M E; Wollnik, B; Nürnberg, P; Baas, F (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9):1113-1118.

This list was generated on Fri Sep 22 18:40:39 2017 CEST.